ORPHA:79482

Cutis verticis gyrata-thyroid aplasia-intellectual disability syndrome

Synonyms: Akesson syndrome

This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Primary non-essential cutis verticis gyrata

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Cutis verticis gyrata-thyroid aplasia-intellectual disability syndrome	Akesson syndrome
fr	Syndrome de cutis verticis gyrata-aplasie de la thyroïde-déficience intellectuelle	Syndrome d'Akesson
de	Cutis verticis gyrata-Schilddrüsenaplasie-Intelligenzminderung-Syndrom	Akesson-Syndrom
es	Síndrome de cutis verticis gyrata-aplasia tiroidea-discapacidad intelectual	Síndrome de Akesson
it	Sindrome cutis verticis gyrata-aplasia della tiroide-disabilità intellettiva	Sindrome di Akesson
nl	Cutis verticis gyrata - schildklieraplasie - intellectuele achterstand-syndroom	Syndroom van Akesson
pt	Síndrome de cutis verticis gyrata-aplasia da tiroide-perturbação do desenvolvimento intelectual	Síndrome Akesson
pl	Skóra kręta ciemienia - aplazja tarczycy - niepełnosprawność intelektualna	Zespół Akessona
cs	Syndrom zahrnující cutis verticis gyrata, tyreoidní aplázii a mentální retardaci	Akessonův syndrom
uk	Синдром складчастої пахідермії-аплазії щитовидної залози-інтелектуальної недостатності	Синдром Акессона
zh	回状颅皮-甲状腺发育不全-智力残疾综合征	Akesson综合征
tr	Cutis verticis gyrata-tiroid aplazisi-zihinsel yetersizlik sendromu	Akesson sendromu

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	304200	E		validated
UMLS	C0795848	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Not placed in any Orphanet classification in this release.

No children.

0 direct

Orphanet records no gene directly on this code.

0 records

No prevalence record in this release.

Orphanet has no HPO annotation for this code in this release.